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Updated: Aug 9, 2026
07:42
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Ocular manifestations of chromosome 14 terminal deletion
Ida Chung1, Radhika Chawla, David E FitzGerald
1State University of New York, State College of Optometry, New York, New York, USA.
Journal of Pediatric Ophthalmology and Strabismus
|April 8, 2006
Abstract:
A boy with chromosome 14 terminal (14q32.3) deletion presented with typical facial dysmorphism, mental retardation, and hypotonia. Ocular examination revealed esotropia, jerk nystagmus, microcornea, and retinal-choroidal colobomas. We report the first case of microcorneas and colobomas in association with chromosome 14 terminal deletion to help further define this clinical syndrome.
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